ClinVar for Gene (Select 100507291) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 165

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3431508	NM_004164.3(RBP2):c.68C>T (p.Ala23Val)	COPB2-DT, RBP2 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3431507	NM_004164.3(RBP2):c.154A>G (p.Thr52Ala)	COPB2-DT, RBP2 (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3431506	NM_002899.5(RBP1):c.151C>G (p.Pro51Ala)	COPB2-DT, RBP1 (P51A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406355	NM_001401600.1(NMNAT3):c.643G>A (p.Val215Ile)	COPB2-DT, NMNAT3 (V126I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3313368	NM_004164.3(RBP2):c.65A>G (p.Lys22Arg)	COPB2-DT, RBP2 (K22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300166	NM_001401600.1(NMNAT3):c.674C>T (p.Thr225Met)	COPB2-DT, NMNAT3 (T188M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200832	NM_001401600.1(NMNAT3):c.196G>A (p.Ala66Thr)	COPB2-DT, NMNAT3 (A160T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200831	NM_001401600.1(NMNAT3):c.476A>G (p.Lys159Arg)	COPB2-DT, NMNAT3 (K122R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200830	NM_001401600.1(NMNAT3):c.410A>G (p.Asp137Gly)	COPB2-DT, NMNAT3 (D231G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200829	NM_001401600.1(NMNAT3):c.278C>G (p.Thr93Arg)	COPB2-DT, NMNAT3 (T56R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200828	NM_001401600.1(NMNAT3):c.236G>A (p.Arg79Gln)	COPB2-DT, NMNAT3 (R173Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3152579	NM_004164.3(RBP2):c.92G>A (p.Arg31His)	COPB2-DT, RBP2 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152578	NM_004164.3(RBP2):c.77T>C (p.Ile26Thr)	COPB2-DT, RBP2 (I26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152577	NM_004164.3(RBP2):c.23C>T (p.Thr8Ile)	COPB2-DT, RBP2 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152576	NM_004164.3(RBP2):c.217G>A (p.Glu73Lys)	COPB2-DT, RBP2 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152575	NM_002899.5(RBP1):c.164A>G (p.Asn55Ser)	COPB2-DT, RBP1 (N55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3015818	NM_002899.5(RBP1):c.121C>T (p.Arg41Cys)	COPB2-DT, RBP1 (R41C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009190	NM_002899.5(RBP1):c.260-20C>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007434	NM_002899.5(RBP1):c.460G>C (p.Asp154His)	COPB2-DT, RBP1 (D154H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007336	NM_002899.5(RBP1):c.540+5G>A	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004843	NM_002899.5(RBP1):c.457G>T (p.Gly153Ter)	COPB2-DT, RBP1 (G91* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3000166	NM_002899.5(RBP1):c.427C>G (p.Arg143Gly)	COPB2-DT, LOC126806824 +1 more (R143G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982348	NM_002899.5(RBP1):c.127C>G (p.Pro43Ala)	COPB2-DT, RBP1 (P43A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973540	NM_002899.5(RBP1):c.46G>A (p.Ala16Thr)	COPB2-DT, RBP1 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970866	NM_002899.5(RBP1):c.188T>C (p.Met63Thr)	COPB2-DT, RBP1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963176	NM_002899.5(RBP1):c.16G>A (p.Gly6Ser)	COPB2-DT, RBP1 (G6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960255	NM_002899.5(RBP1):c.64C>T (p.Leu22=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901834	NM_002899.5(RBP1):c.439A>G (p.Thr147Ala)	COPB2-DT, RBP1 (T85A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898551	NM_002899.5(RBP1):c.59G>T (p.Ser20Ile)	COPB2-DT, RBP1 (S20I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895730	NM_002899.5(RBP1):c.17G>A (p.Gly6Asp)	COPB2-DT, RBP1 (G6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894996	NM_002899.5(RBP1):c.210C>T (p.Tyr70=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889343	NM_002899.5(RBP1):c.134G>T (p.Ser45Ile)	COPB2-DT, RBP1 (S45I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879080	NM_002899.5(RBP1):c.127C>T (p.Pro43Ser)	COPB2-DT, RBP1 (P43S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868212	NM_002899.5(RBP1):c.524G>T (p.Gly175Val)	COPB2-DT, RBP1 (G175V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841621	NM_002899.5(RBP1):c.161C>A (p.Ala54Asp)	COPB2-DT, RBP1 (A54D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2823952	NM_002899.5(RBP1):c.228C>A (p.Asn76Lys)	COPB2-DT, RBP1 (N14K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817623	NM_002899.5(RBP1):c.491A>C (p.Lys164Thr)	COPB2-DT, RBP1 (K102T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817399	NM_002899.5(RBP1):c.144G>A (p.Pro48=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816637	NM_002899.5(RBP1):c.438+13G>T	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803734	NM_002899.5(RBP1):c.443C>T (p.Thr148Ile)	COPB2-DT, RBP1 (T86I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792211	NM_002899.5(RBP1):c.258C>G (p.Leu86=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2790070	NM_002899.5(RBP1):c.439-4G>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788683	NM_002899.5(RBP1):c.333T>C (p.His111=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742033	NM_002899.5(RBP1):c.409C>G (p.Leu137Val)	COPB2-DT, LOC126806824 +1 more (L137V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739309	NM_002899.5(RBP1):c.519C>T (p.Ile173=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728808	NM_002899.5(RBP1):c.246C>T (p.Tyr82=)	RBP1, COPB2-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602351	NM_001401600.1(NMNAT3):c.409G>A (p.Asp137Asn)	COPB2-DT, NMNAT3 (D231N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545967	NM_002899.5(RBP1):c.385G>A (p.Val129Ile)	COPB2-DT, RBP1 (V67I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520376	NM_001401600.1(NMNAT3):c.191G>A (p.Arg64Gln)	COPB2-DT, NMNAT3 (R64Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2510034	NM_004164.3(RBP2):c.12C>G (p.Asp4Glu)	COPB2-DT, RBP2 (D4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479330	NM_002899.5(RBP1):c.347C>T (p.Thr116Met)	COPB2-DT, RBP1 (T116M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464762	NM_001401600.1(NMNAT3):c.452C>T (p.Ala151Val)	COPB2-DT, NMNAT3 (A114V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461979	NM_001401600.1(NMNAT3):c.175G>A (p.Ala59Thr)	COPB2-DT, NMNAT3 (A59T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2455810	NM_004164.3(RBP2):c.119C>T (p.Thr40Met)	COPB2-DT, RBP2 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422208	NM_002899.5(RBP1):c.25C>T (p.Arg9Cys)	COPB2-DT, RBP1 (R9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420290	NM_002899.5(RBP1):c.592T>A (p.Ter198Arg)	COPB2-DT, RBP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2418356	NM_002899.5(RBP1):c.130G>A (p.Gly44Ser)	COPB2-DT, RBP1 (G44S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418145	NM_002899.5(RBP1):c.65T>A (p.Leu22Gln)	COPB2-DT, RBP1 (L22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418106	NM_002899.5(RBP1):c.490_492del (p.Lys164del)	COPB2-DT, RBP1 (K102del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2413880	NM_002899.5(RBP1):c.126T>C (p.Cys42=)	RBP1, COPB2-DT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2327379	NM_004164.3(RBP2):c.46A>C (p.Asn16His)	COPB2-DT, RBP2 (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294593	NM_004164.3(RBP2):c.176G>A (p.Arg59His)	COPB2-DT, RBP2 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288458	NM_002899.5(RBP1):c.211T>G (p.Trp71Gly)	COPB2-DT, RBP1 (W71G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280265	NM_001401600.1(NMNAT3):c.306C>A (p.Ser102Arg)	COPB2-DT, NMNAT3 (S102R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258370	NM_001401600.1(NMNAT3):c.271A>G (p.Met91Val)	COPB2-DT, NMNAT3 (M185V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2256580	NM_004164.3(RBP2):c.107G>A (p.Arg36His)	COPB2-DT, RBP2 (R36H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248172	NM_001401600.1(NMNAT3):c.608C>T (p.Thr203Ile)	COPB2-DT, NMNAT3 (T114I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240608	NM_002899.5(RBP1):c.11C>G (p.Pro4Arg)	COPB2-DT, RBP1 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221925	NM_004164.3(RBP2):c.242G>A (p.Arg81Gln)	COPB2-DT, RBP2 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219280	NM_002899.5(RBP1):c.500G>A (p.Arg167His)	COPB2-DT, RBP1 (R105H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2206306	NM_001401600.1(NMNAT3):c.259C>A (p.Gln87Lys)	COPB2-DT, NMNAT3 (Q87K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2192882	NM_002899.5(RBP1):c.510C>T (p.Thr170=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190172	NM_002899.5(RBP1):c.125G>A (p.Cys42Tyr)	COPB2-DT, RBP1 (C42Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186748	NM_002899.5(RBP1):c.110G>C (p.Ser37Thr)	COPB2-DT, RBP1 (S37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179818	NM_002899.5(RBP1):c.1A>G (p.Met1Val)	COPB2-DT, RBP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176993	NM_002899.5(RBP1):c.369C>T (p.Tyr123=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156513	NM_002899.5(RBP1):c.557G>C (p.Gly186Ala)	COPB2-DT, RBP1 (G124A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139146	NM_002899.5(RBP1):c.562G>T (p.Val188Phe)	COPB2-DT, RBP1 (V188F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2133876	NM_002899.5(RBP1):c.138C>G (p.Leu46=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2126940	NM_002899.5(RBP1):c.341T>C (p.Ile114Thr)	COPB2-DT, RBP1 (I114T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118585	NM_002899.5(RBP1):c.406G>A (p.Asp136Asn)	COPB2-DT, LOC126806824 +1 more (D136N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114016	NM_002899.5(RBP1):c.104dup (p.Arg36fs)	COPB2-DT, RBP1 (R36fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2112599	NM_002899.5(RBP1):c.438+17A>C	RBP1, COPB2-DT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101670	NM_002899.5(RBP1):c.110G>A (p.Ser37Asn)	COPB2-DT, RBP1 (S37N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085311	NM_002899.5(RBP1):c.502G>A (p.Gly168Ser)	COPB2-DT, RBP1 (G168S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078589	NM_002899.5(RBP1):c.537C>G (p.His179Gln)	COPB2-DT, RBP1 (H117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070700	NM_002899.5(RBP1):c.32G>C (p.Gly11Ala)	COPB2-DT, RBP1 (G11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066296	NM_002899.5(RBP1):c.405G>T (p.Glu135Asp)	COPB2-DT, LOC126806824 +1 more (E73D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064821	NM_002899.5(RBP1):c.288C>G (p.Ala96=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061480	NM_002899.5(RBP1):c.257T>G (p.Leu86Arg)	COPB2-DT, RBP1 (L24R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037596	NM_002899.5(RBP1):c.220T>C (p.Leu74=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032432	NM_002899.5(RBP1):c.14C>G (p.Ala5Gly)	COPB2-DT, RBP1 (A5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032180	NM_002899.5(RBP1):c.259+4A>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2017360	NM_002899.5(RBP1):c.179T>A (p.Leu60His)	COPB2-DT, RBP1 (L60H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2006599	NM_002899.5(RBP1):c.436A>G (p.Met146Val)	COPB2-DT, LOC126806824 +1 more (M146V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000778	NM_002899.5(RBP1):c.119_120delinsAA (p.Ser40Lys)	COPB2-DT, RBP1 (S40K)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1991927	NM_002899.5(RBP1):c.171C>T (p.Leu57=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1986388	NM_002899.5(RBP1):c.206G>A (p.Gly69Glu)	COPB2-DT, RBP1 (G7E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984178	NM_002899.5(RBP1):c.531G>A (p.Glu177=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984116	NM_002899.5(RBP1):c.1A>C (p.Met1Leu)	COPB2-DT, RBP1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 2